PURPOSE This study aims to identify which aspects of the pupil light reflex are most influenced by rods and cones independently by analyzing pupil recordings from different mouse models of photoreceptor deficiency. METHODS One-month-old wild type (WT), rodless (Rho-/-), coneless (Cnga3-/-), or photoreceptor less (Cnga3-/-; Rho-/- or Gnat1-/-) mice were subjected to brief red and blue light st...

a total number of 124 women of childbearing age attending a family planning clinic in teheran were investigated for the effects of contraceptive steroids and the intra-terine device on their hemoglobin concentration, packed cell volume, serum iron and serum tibc. a total of 42 women were used as control group of 42 women who were fitted with an intra-uterine device, 17 were studied for changes ...

how to cite this article: boroujerdi r, shariati m, naddafnia h, rezaei h. small duplication of hprt 1 gene may be causative for lesh- nyhan disease in iranian patients. iran j child neurol. 2015 winter;9(1):103-106. abstract deficiency of hypoxanthine-guanine phosphoribosyltransferase (hgprt) is a rare inborn error of purine metabolism and is characterized by uric acid overproduction along wit...

Background: Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. Case presentation: We report a rare case of...

Amer. J. Med. 27,963 (1959). [7] GORDON, R.: Exsudative enteropathy. Lancet 191)9/1, 325. [8] SCHWARTZ, M., and B. TROMSEN: Idiopathic or hypcrcatabolic hypoproteinaemia. Brit. med. J. 191)7 I, 14. [9] BARANDUN, S., R. AEBERsoLD u. R. BIANCRI: "Proteindiarrhoe". Schweiz. med. Wschr. 90, 1458 (1960). [10] HANIOKI,Z., J.HAWIGER, P.HIRSZEL, and Z. TWARDOWSKI: On some aspects of the antibody defici...

background: familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein c-ii deficiency or the presence of inhibitors to lipoprotein lipase. it manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. case presentation: we report a rare case of...

Scripts of familiar activities store the temporal order of events. This enables us to generate predictions about which event will follow another. When an event does not unfold in the chronological order, a mismatch arises between the predictions and the external sensory input which is perceived as a conflict. The detection of this mismatch is accomplished by a comparison mechanism (Zacks et al....

deficiency' and reflects the importance of this serine protease inhibitor for the anticoagulant activity of heparin. Our experience shows the importance of screening for an underlying disorder in the young with thrombosis and strongly suggests that prophylactic measures aimed at preventing thrombosis should be considered in acutely ill subjects with infection and familial thrombophilia. 1 Rosen...

however definitions of these entities are inconsistent across studies. Anemia and iron deficiency states are common among children in developing communities including among expatriates residing within developed nations.7-12 Studies of middle eastern populations have shown high prevalences of anemia and iron deficiency in young children.13-15 Padmanabhan et al16 have reported an anemia prevalenc...